ClinVar Miner

Submissions for variant NM_002878.3(RAD51D):c.784C>A (p.Pro262Thr) (rs1340405420)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000582769 SCV000691364 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-25 criteria provided, single submitter clinical testing
GeneKor MSA RCV000582769 SCV000822183 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV000698495 SCV000827162 uncertain significance Breast-ovarian cancer, familial 4 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces proline with threonine at codon 262 of the RAD51D protein (p.Pro262Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with RAD51D-related disease. ClinVar contains an entry for this variant (Variation ID: 492444). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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